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[Autoinflammation-A clinical and genetic challenge].

Gerd HorneffCatharina SchützAngela Rösen-Wolff
Published in: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete (2022)
In the last two decades clinical rheumatological practice has been confronted with a steadily increasing number of autoinflammatory diseases, the immunological pathomechanisms of which have been elucidated and in part can be clinically well classified. Whereas targeted genetic diagnostics previously served to confirm a clinically suspected diagnosis, genetic sequencing technology has much improved and enables a new diagnostic approach via high-throughput sequencing, e.g., panel sequencing, whole exome and whole genome sequencing. Thus, the decision to make a diagnosis clinically and/or genetically, has become a daily challenge. This article contrasts the clinical, immunological and genetic aspects of autoinflammatory diseases.
Keyphrases
  • genome wide
  • copy number
  • healthcare
  • single cell
  • primary care
  • physical activity
  • gene expression
  • cancer therapy
  • quality improvement